• Gene id: 913

Gene Summary

• Gene Symbol: CD1E   Gene   UCSC   Ensembl
• Aliases: CD1A, R2
• Gene name: CD1e molecule
• Alternate names: T-cell surface glycoprotein CD1e, membrane-associated, CD1E antigen, e polypeptide, R2G1, differentiation antigen CD1-alpha-3, hCD1e, leukocyte differentiation antigen, thymocyte antigen CD1E,
• Gene location: 1q23.1 (158353122: 158357553)     Exons: 6     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation o
• OMIM: 607049

Protein Summary

• Protein general information: P15812  
  • Name: T cell surface glycoprotein CD1e, membrane associated (hCD1e) (R2G1) (CD antigen CD1e) [Cleaved into: T cell surface glycoprotein CD1e, soluble (sCD1e)]
  • Length: 388  
  • Mass: 43626
  • Tissue specificity: Expressed on cortical thymocytes, dendritic cells, Langerhans cells, on certain T-cell leukemias, and in various other tissues. {ECO
• Sequence:

  MLLLFLLFEGLCCPGENTAAPQALQSYHLAAEEQLSFRMLQTSSFANHSWAHSEGSGWLGDLQTHGWDTVLGTIR
  FLKPWSHGNFSKQELKNLQSLFQLYFHSFIQIVQASAGQFQLEYPFEIQILAGCRMNAPQIFLNMAYQGSDFLSF
  QGISWEPSPGAGIRAQNICKVLNRYLDIKEILQSLLGHTCPRFLAGLMEAGESELKRKVKPEAWLSCGPSPGPGR
  LQLVCHVSGFYPKPVWVMWMRGEQEQRGTQRGDVLPNADETWYLRATLDVAAGEAAGLSCRVKHSSLGGHDLIIH
  WGGYSIFLILICLTVIVTLVILVVVDSRLKKQSSNKNILSPHTPSPVFLMGANTQDTKNSRHQFCLAQVSWIKNR
  VLKKWKTRLNQLW

• Structural information:
  • Protein Domains: (191..30-)
    (/note="Ig-like"-)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003597  IPR011161   IPR037055  IPR011162  
  • Prosite: PS50835
  • PDB: 3S6C
  • PDBsum: 3S6C
  • STRING: ENSP00000357149
• Other Databases: GeneCards:  CD1E  Malacards:  CD1E

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0030883	endogenous lipid antigen binding	IBA	molecular function
GO:0030884	exogenous lipid antigen binding	IBA	molecular function
GO:0071723	lipopeptide binding	IBA	molecular function
GO:0001916	positive regulation of T cell mediated cytotoxicity	IBA	biological process
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0048006	antigen processing and presentation, endogenous lipid antigen via MHC class Ib	IBA	biological process
GO:0048007	antigen processing and presentation, exogenous lipid antigen via MHC class Ib	IBA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0002250	adaptive immune response	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0043202	lysosomal lumen	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0006955	immune response	NAS	biological process
GO:0005887	integral component of plasma membrane	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04530	Tight junction
hsa05146	Amoebiasis
hsa04640	Hematopoietic cell lineage

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R